Teen shares medical odyssey on Mystery Diagnosis'

Bladensburg resident suffers from rare, disfiguring disorder

Nichole Beavers, 19, who will be featured on "Mystery Diagnosis" on Discovery Health. Beavers suffers from a rare disorder called Perry Romberg syndrome, which causes slow degeneration of the face. On Nov. 20, she pulled out records and research material she uses trying to figure out the root of the syndrome.

For years, 19-year-old Bladensburg resident Nichole Beavers suffered with a litany of medical challenges  hair loss, teeth pain  and then a doctor noticed the right side of her face was disfigured, a problem that was slowly worsening.

In 2006, he diagnosed her with Parry Romberg syndrome, a rare disorder characterized by a slow caving in of the face. Beavers shared her story on Monday night's hour-long episode of "Mystery Diagnosis" on the Discovery Health network.

"It was really to help other people, but I want doctors to get interested [in the disorder]," Beavers said of her appearance on the show. "I feel the more information that's out there, the more people will accept [the disorder]."

About 1 in every 700,000 people worldwide has the disorder, according to a 2006 report by Jon Stone, an expert neurologist on the disorder.

Parry Romberg syndrome is named after the two doctors who discovered it. Its cause is unknown and there is no cure, said Stefanie Putkowski, clinical information specialist and nurse for Connecticut-based National Organization for Rare Disorders.

Putkowski said some patients can also suffer from eye problems that affect the patient's ability to see, seizures or severe pain in the facial tissues, which Beavers has.

"It affects me a lot. I'm not able to do what I want to do," Beavers said.

The pain causes her to miss work and school, so she is currently taking online college courses through DeVry University, majoring in criminal justice and psychology.

For some patients, the atrophy stops and surgeons can work to reconstruct damaged facial tissue. But Beavers said it is not guaranteed, and the atrophy could continue to worsen, affecting the neck as well. The disease is not considered life-threatening.

"I don't know what it's going to be for me," she said. "I'm just going to wait it out and ride this rollercoaster."

And although she does have to deal with insensitive questions or even teasing about the way she looks, the support from those close in her life, and in particular her fiancé, Stephanie Outlaw, has helped her to cope.

Outlaw said she does not see the Parry Romberg syndrome when she looks at Beavers.

"She is beautiful inside and out," Outlaw said.

Since diagnosed, Beavers has devoted herself to educating others on Parry Romberg syndrome and counseling other sufferers she has met through an online support group.

Beavers said although there is no cure and no definite information on what causes her disorder, she has a sense of peace knowing what her disorder is.

"Knowing it made me different, not having it," she said. "It's made me look and care more about people's problems, more than my own."

She spends much of her free time researching on the Internet, calling researchers at universities nationwide and keeps informational pamphlets in her purse to hand out to people daily.

Putkowski said she recalls when Beavers reached out to NORD organization in March

"With having a rare disease, one of the worst parts is the isolation; the sense of isolation and the sense that no one knows what to do with it," Putkowski said. "[Beavers] felt that no one knew would was happening to her. It's very typical with a rare disorder  you think you're the only one."

Discovery Health publicist Katie Crockett said Beaver's story is representative of the show's mission.

"It's really just to put remarkable stories of patient perseverance and persistence out there and for patients to empower themselves," she said.